ABCC6

ATP binding cassette subfamily C member 6
OMIM: 603234, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red ABCC6 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pseudoxanthoma elasticum (MIM# 264800)
Green ABCC6 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arterial calcification, generalized, of infancy, 2, MIM# 614473 Pseudoxanthoma elasticum, MIM# 264800 Pseudoxanthoma elasticum, forme fruste, MIM#177850 Tags SV/CNV treatable
Red ABCC6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland
Green ABCC6 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Pseudoxanthoma elasticum, MIM#264800 Tags SV/CNV
Red ABCC6 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Pseudoxanthoma elasticum MIM#264800 Arterial calcification, generalized, of infancy, 2 MIM#614473
Green ABCC6 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pseudoxanthoma elasticum, MIM# 264800 Pseudoxanthoma elasticum, forme fruste, MIM# 177850 Tags SV/CNV
Red ABCC6 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	Unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Moyamoya disease
Green ABCC6 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pseudoxanthoma elasticum Tags SV/CNV
Green ABCC6 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Red Phenotypes Arterial calcification, generalized, of infancy, 2, MIM# 614473 Tags SV/CNV
Red ABCC6 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Pseudoxanthoma elasticum MIM#264800 Arterial calcification, generalized, of infancy, 2 MIM#614473
Green ABCC6 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Arterial calcification, generalized, of infancy, 2, #MIM614473 Tags for review treatable
Green ABCC6 in Facial papules Level 2: Dermatological disorders Version 1.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925
Green ABCC6 in Nucleotide metabolism disorders Level 2: Metabolic disorders Version 0.1 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green